DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Low density lipoprotein cholesterol measurement ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	28
Gene Symbol:	ABO

ABO

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A genome wide association study identifies common variants associated with lipid levels in the Chinese population.

24386095

2013

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A genome wide association study identifies common variants associated with lipid levels in the Chinese population.

24386095

2013

Entrez Id:	85440
Gene Symbol:	DOCK7

DOCK7

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A genome wide association study identifies common variants associated with lipid levels in the Chinese population.

24386095

2013

Entrez Id:	3156
Gene Symbol:	HMGCR

HMGCR

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A genome wide association study identifies common variants associated with lipid levels in the Chinese population.

24386095

2013

Entrez Id:	23301
Gene Symbol:	EHBP1

EHBP1

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

Entrez Id:	283460
Gene Symbol:	HNF1A-AS1

HNF1A-AS1

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

Entrez Id:	28983
Gene Symbol:	TMPRSS11E

TMPRSS11E

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

Entrez Id:	64897
Gene Symbol:	C12orf43

C12orf43

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

Entrez Id:	29881
Gene Symbol:	NPC1L1

NPC1L1

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

Entrez Id:	3250
Gene Symbol:	HPR

HPR

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

Entrez Id:	675
Gene Symbol:	BRCA2

BRCA2

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

Entrez Id:	54899
Gene Symbol:	PXK

PXK

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

Entrez Id:	51241
Gene Symbol:	COX16

COX16

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

Entrez Id:	134359
Gene Symbol:	POC5

POC5

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

Entrez Id:	3156
Gene Symbol:	HMGCR

HMGCR

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

Entrez Id:	745
Gene Symbol:	MYRF

MYRF

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

Entrez Id:	346
Gene Symbol:	APOC4

APOC4

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

Entrez Id:	6006
Gene Symbol:	RHCE

RHCE

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

Entrez Id:	100529257
Gene Symbol:	SYNJ2BP-COX16

SYNJ2BP-COX16

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

Entrez Id:	3992
Gene Symbol:	FADS1

FADS1

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

Entrez Id:	9310
Gene Symbol:	ZNF235

ZNF235

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

Entrez Id:	54980
Gene Symbol:	C2orf42

C2orf42

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

Entrez Id:	10019
Gene Symbol:	SH2B3

SH2B3

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

Entrez Id:	57794
Gene Symbol:	SUGP1

SUGP1

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

Entrez Id:	6101
Gene Symbol:	RP1

RP1

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018